ArticleClinical cardiology2018
Genetic diagnosis of familial hypercholesterolemia is associated with a premature and high coronary heart disease risk.
Article in Clinical cardiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 25 citations in OpenAlex.
- Familial hypercholesterolaemia with early-onset coronary artery disease and recurrent in-stent restenosis associated with the LDLR gene c.428G>A mutation: a case report.Frontiers in cardiovascular medicine · 2025Article
- Algorithm for detection and screening of familial hypercholesterolemia in Lithuanian population.Lipids in health and disease · 2024Article
- Modulating effects of crocin on lipids and lipoproteins: Mechanisms and potential benefits.Heliyon · 2024Review
- The Beneficial Effects of Curcumin on Lipids: Possible Effects on Dyslipidemia-induced Cardiovascular Complications.Current medicinal chemistry · 2024Review
- Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with coronary artery disease and reduced ejection fraction.Scientific reports · 2023Article
- An updated review on cell signaling pathways regulated by candidate miRNAs in coronary artery disease.Non-coding RNA research · 2023Review
- Effect of causative genetic variants on atherosclerotic cardiovascular disease in heterozygous familial hypercholesterolemia patients.Frontiers in cardiovascular medicine · 2023Article
- Burden of cardiovascular disease in a large contemporary cohort of patients with heterozygous familial hypercholesterolemia.Atherosclerosis plus · 2022Article
- Mechanistic View on the Effects of SGLT2 Inhibitors on Lipid Metabolism in Diabetic Milieu.Journal of clinical medicine · 2022Review
- The Impact of Incretin-Based Medications on Lipid Metabolism.Journal of diabetes research · 2021Article
- Article
- Cascade screening and genetic diagnosis of familial hypercholesterolemia in clusters of the Southeastern region from Brazil.Molecular biology reports · 2020Observational
- A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia.Journal of personalized medicine · 2020Review
- Maternally inherited coronary heart disease is associated with a novel mitochondrial tRNA mutation.BMC cardiovascular disorders · 2019Article
- Barriers and Facilitators to Genetic Testing for Familial Hypercholesterolemia in the United States: A Review.Journal of personalized medicine · 2019Review
- Prevalence of familial hypercholesterolemia in patients with premature myocardial infarction.Clinical cardiology · 2019Article
- Understanding Implementation Challenges to Genetic Testing for Familial Hypercholesterolemia in the United States.Journal of personalized medicine · 2019Article
- Genetic diagnosis of familial hypercholesterolemia is associated with a premature and high coronary heart disease risk.Clinical cardiology · 2018Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFamilial hypercholesterolemia (FH) is a common autosomal dominant disease associated with premature coronary heart disease (CHD). Studies tend to show that patients with FH associated with an identified mutation (mutation+ FH) are at higher risk than patients without an identified mutation (mutation- FH). We compared the clinical and biological profile and the risk of CHD in patients with mutation+ FH and mutation- FH. HYPOTHESIS: In addition to LDL-C, a pathogenic mutation predicts premature CHD in FH.
methodsWe successively included all patients with suspected FH (LDL-C > 190 mg/dL if age > 18 years; LDL-C > 160 mg/dL if age < 18 years) and compared patients with a pathogenic mutation with those without an identified pathogenic mutation.
resultsWe studied 179 patients with mutation+ FH and 147 with mutation- FH. The mean age was 44 (± 18) years. The lipid profile was more atherogenic in those with mutation+ FH, who had higher LDL-C (254 ± 69 mg/dL vs 218 ± 35 mg/dL; P < 0.01) and lower HDL-C (53 ± 14 mg/dL vs 58 ± 17 mg/dL; P < 0.01). Despite the more atherogenic nonlipid cardiovascular profile of patients with mutation- FH, the age of CHD onset was earlier in patients with mutation+ FH (48 vs 56 years; P = 0.026). After multiple adjustment, the presence of a positive mutation was significantly associated with premature CHD (OR: 3.0, 95% CI: 1.38-6.55, P < 0.01).
conclusionsPatients with mutation+ FH have a more atherogenic lipid profile and a 3-fold higher risk of premature CHD, as well as earlier onset of CHD, than patients with mutation- FH.
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